Autoinflammatory Disorders
Gene: PMVKEnsemblGeneIds (GRCh38): ENSG00000163344
EnsemblGeneIds (GRCh37): ENSG00000163344
OMIM: 607622, Gene2Phenotype
PMVK is in 3 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.
Sources: LiteratureCreated: 13 Jul 2023, 2:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Autoinflammatory syndrome, MONDO:0019751, PMVK-related
- OMIM
- 607622
- Clinvar variants
- Variants in PMVK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PMVK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, PMVK-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pmvk has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: PMVK was added gene: PMVK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: PMVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMVK were set to PMID: 37364720; 36410683 Phenotypes for gene: PMVK were set to Autoinflammation Review for gene: PMVK was set to AMBER